Li Luo, Donghong Li, Shuguang Wei, Hongbo Zhang, Jing Zhao, Shengbin Li
Department of Forensic Science, School of Medicine, Xi’an Jiaotong University, Xi’an, Shaanxi 710061, PR China.
J Matern Fetal Neonatal Med. 2013 May;26(7):686-90. doi: 10.3109/14767058.2012.746305. Epub 2012 Dec 14.
To evaluate the association between the vascular endothelial growth factor (VEGF) polymorphism and the risk of recurrent spontaneous miscarriage (RSM).
The participants enrolled included 227 RSM patients and 232 women with normal fertility. We examined the potential association between RSM and 13 single nucleotide polymorphisms (rs699947, rs1570360, rs2010963, rs833068, rs833069, rs3024997, rs3024998, rs3025000, rs3025006, rs3025010, rs3025020, rs3025030 and rs3025039) of VEGF gene using the MassARRAY system.
The results showed that rs3025020 located at intron 6 of VEGF gene was significantly associated with RSM (χ(2 )= 12.6385, p = 0.0004, odds ratio (OR) = 1.6109, 95% confidence interval (CI) = 1.2377-2.0967). Another significant association was observed for rs3025039 located in the 3'-untranslated region of VEGF gene (χ(2 )= 9.7256, p = 0.0018, OR = 1.6492, 95% CI = 1.2023-2.2622). Furthermore, strong linkage disequilibrium was observed in three blocks (D' > 0.9), and significantly more T-G-C haplotypes (p = 0.0286) and fewer C-G-C haplotypes (p = 0.0006 after Bonferroni correction) residing in block 3 were found in RSM patients.
These findings point to a role for VEGF gene polymorphisms in RSM, and may be informative for future genetic or neurobiological studies on RSM.
评估血管内皮生长因子(VEGF)基因多态性与复发性自然流产(RSM)风险之间的关联。
纳入的参与者包括227例RSM患者和232例生育能力正常的女性。我们使用MassARRAY系统检测了RSM与VEGF基因的13个单核苷酸多态性(rs699947、rs1570360、rs2010963、rs833068、rs833069、rs3024997、rs3024998、rs3025000、rs3025006、rs3025010、rs3025020、rs3025030和rs3025039)之间的潜在关联;
结果显示,位于VEGF基因第6内含子的rs3025020与RSM显著相关(χ(2)=12.6385,p=0.0004,比值比(OR)=1.6109,95%置信区间(CI)=1.2377-2.0967)。在VEGF基因3'非翻译区的rs3025039也观察到显著关联(χ(2)=9.7256,p=0.0018,OR=1.6492,95%CI=1.2023-2.2622)。此外,在三个区域观察到强连锁不平衡(D'>0.9),并且在RSM患者中发现第3区域中T-G-C单倍型显著更多(p=0.0286),而C-G-C单倍型显著更少(经Bonferroni校正后p=0.0006)。
这些发现表明VEGF基因多态性在RSM中起作用,并且可能为未来关于RSM的遗传或神经生物学研究提供信息。